Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy

Filla, Alessandro; Michele, Giuseppe De; Marconi, Roberto; Bucci, Luigi; Carillo, Carmine; Castellano, Anna Elisa; Iorio, Lucio; Kniahynicki, C; Rossi, Francesco; Campanella, G

doi:10.1007/bf00867594

Cited by 91 publications

(46 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The DNA was extracted from peripheral blood leukocytes using the "salting out" precipitation method by Miller et al 7 and amplified by PCR using the ELONGASE TM Enzyme Mix (GIBCO BRL) according to the manufacturers instructions. The primers and PCR conditions used for the analysis of the GAA repeats in the first intron of the X25 gene were described by Filla et al 8 , which generated PCR products of 500+3n base pairs (n: number of GAA triplets). These fragments were then submitted to electrophoresis in a 1% agarose gel and were separated by size.…”

Section: Methodsmentioning

confidence: 99%

Clinical and molecular studies in five Brazilian cases of Friedreich ataxia

Schwartz

Jardim

Puga

et al. 1999

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

-Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation in five Brazilian patients: four with typical FRDA findings and one patient with atypical manifestations, who was considered to have some other form of cerebellar ataxia with retained reflexes. The GAA expansion was detected in all these patients. The confirmation of FRDA diagnosis in the atypical case may be pointing out, as in other reports, that clinical spectrum of Friedreich's ataxia is broader than previously recognised and includes cases with intact tendon reflexes.KEY WORDS: Friedreich ataxia, cerebellar ataxia, expansion of unstable repeats. Avaliação clínica e molecular de cinco pacientes brasileiros com ataxia de FriedreichRESUMO -A ataxia de Friedreich (FRDA) é a mais frequente das ataxias com herança autossômica recessiva. Em 94 % dos casos, é causada por uma expansão homozigota instável da repetição de trinucleotídeos GAA, localizada no primeiro íntron do gene X25. Esta mutação foi investigada em cinco pacientes brasileiros: quatro com quadro clínico típico de FRDA e um paciente com manifestações atípicas, cujo diagnóstico prévio era o de alguma outra forma de ataxia cerebelar com preservação de reflexos. A investigação foi positiva nos cinco casos. A confirmação do diagnóstico de FRDA

show abstract

Section: Methodsmentioning

confidence: 99%

Clinical and molecular studies in five Brazilian cases of Friedreich ataxia

Schwartz

Jardim

Puga

et al. 1999

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

show abstract

“…1 Autosomal dominant, autosomal recessive and X-linked forms of HSP have been described. 2 The 'pure' forms of HSP are clinically characterised by lower limb slow progressive weakness and spasticity, hyper-reflexia and Babinski signs.…”

Section: Introductionmentioning

confidence: 99%

A refined physical and transcriptional map of the SPG9 locus on 10q23.3–q24.2

Nigro¹,

Cusano²,

Scaranari³

et al. 2000

Eur J Hum Genet

Self Cite

View full text Add to dashboard Cite

Hereditary spastic paraplegia (HSP) is a genetically heterogeneous disorder characterised by progressive spasticity of the lower limbs. Beside 'pure' forms of HSP, 'complicated' forms are reported, where spasticity occurs associated with additional symptoms. We recently described an Italian family with a complicated dominant form of HSP (SPG9) and we mapped the gene responsible to 10q23.3-q24.2, in a 12 cM interval between markers D10S564 and D10S603. The phenotypic manifestations in our family are reminiscent of those already described in a smaller British pedigree. We typed individuals from this British family using markers located in the SPG9 critical interval and haplotype reconstruction showed the disorder co-segregating with SPG9. To characterise the SPG9 region better, we constructed a contig of 22 YACs, assigned it to 18 polymorphic markers and positioned 54 ESTs. Furthermore, we searched for ESTs containing a trinucleotide repeat sequence, since anticipation of symptoms was reported in both families. Finally, analysis of a muscle biopsy specimen from one patient was normal, suggesting that, contrary to SPG7, mitochondrial disturbance could not be a primary feature of SPG9.

show abstract

“…Expanded fragment (app 1300bp) [1][2][3][4]. This long-range PCR protocol can be used as a diagnostic tool for FRDA and carrier detection.…”

Section: Resultsmentioning

confidence: 99%

“…It is the most common hereditary ataxia, with an estimated prevalence of 1 in 50,000 [2][3][4], and a carrier frequency of about 1 in 120 in the Caucasian population [5]. The cardinal feature is gait ataxia followed by upper limb ataxia, cerebellar dysarthria, nystagmus, areflexia, loss of joint position sense and spastic paraparesis [6], developing from the second decade of life.…”

Section: Introductionmentioning

confidence: 99%

Molecular Analysis of Friedreich's Ataxia in Macedonian Patients

Kocheva¹,

Trivodalieva²,

Vlaski-Jekic³

et al. 2008

Balkan Journal of Medical Genetics

View full text Add to dashboard Cite

Friedreich's ataxia (FRDA) is rare a progressive neuro degenerative disorder of autosomal recessive inheritance, which is associated with an unstable expansion of a GAA trinucleotide repeat in the first intron of the frataxin gene on chromosome 9q13. We have performed molecular analyses of the frataxin gene of 40 patients with spino cerebellar ataxia from the Republic of Macedonia. Fifteen had early onset of progressive ataxia (before the age of 25), while the remainder were over 25 years old at the time of diagnosis. Only 14 patients had a mutation in the frat axin gene and all of these had early onset ataxia. The number of GAA repeats was in the normal range in 50 healthy individuals.

show abstract

Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy

Cited by 91 publications

References 9 publications

Clinical and molecular studies in five Brazilian cases of Friedreich ataxia

Clinical and molecular studies in five Brazilian cases of Friedreich ataxia

A refined physical and transcriptional map of the SPG9 locus on 10q23.3–q24.2

Molecular Analysis of Friedreich's Ataxia in Macedonian Patients

Contact Info

Product

Resources

About